Variant report

Variant	rs4261494
Chromosome Location	chr15:78223005-78223006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28520639	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs28540428	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28754523	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4480764	0.81[ASN][1000 genomes]
rs72732513	0.84[ASN][1000 genomes]
rs72732516	0.84[ASN][1000 genomes]
rs9920532	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9920783	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv904426	chr15:78090630-78264164	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv904427	chr15:78129964-78251431	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv976954	chr15:78153346-78255825	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1046383	chr15:78153850-78229596	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv904428	chr15:78156238-78230906	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv904429	chr15:78160362-78251431	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv18540	chr15:78202973-78227329	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv9281	chr15:78213140-78225495	Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4261494	RP11-114H24.4	cis	Thyroid	GTEx
rs4261494	RP11-114H24.2	cis	Esophagus Muscularis	GTEx
rs4261494	RP11-114H24.2	cis	lung	GTEx
rs4261494	RP11-114H24.2	cis	Thyroid	GTEx
rs4261494	RP11-114H24.2	cis	Muscle Skeletal	GTEx
rs4261494	RP11-114H24.2	cis	Nerve Tibial	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78203200-78227400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:78219200-78228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:78220600-78223800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:78222600-78223200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr15:78222600-78223600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr15:78222600-78224000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr15:78222600-78224000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:78222600-78224000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:78222800-78223200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr15:78222800-78223600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr15:78222800-78223600	Enhancers	Liver	Liver
12	chr15:78223000-78223600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:78223000-78223600	Weak transcription	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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